The Handbook of Genetic Communicative Disorders

SYNOPSIS: This book includes contributions by leading researchers which address a wide range of topics related to understanding, diagnosing, and treating genetic communication disorders. Basic genetic concepts are introduced. Embryology pertinent to the study of communicative disorders is presented. Epidemiology of genetic communicative disorders is discussed, along with specific sequelae of common and not so common inherited disorders. In addition, issues related to determining the genetic basis of a disorder, what to do once a genetic cause has been identified, ethical and legal implications of a genetic diagnosis, and advances in treatment and prevention are discussed.

REVIEW: Topics addressed in this text are related to understanding, diagnosing, and treating genetic communication disorders. Basic concepts of genetics are introduced, followed by a brief description of approaches used to first determine that a disorder is genetic, and then to localize and identify the affected gene. Craniofacial and inner ear development is discussed in respective chapters, as well as the malformation of component structures. The chapter on inner ear development includes effects of specific gene mutations on inner ear morphology and physiology.

In keeping with the clinical tone of the book, syndromic and nonsyndromic disorders of hearing are detailed with emphasis on those for which the underlying genetic cause is known. Genetic and multifactoral disorders leading to cleft lip, cleft palate, and craniofacial anomalies are described. Implications of a potential genetic basis of these disorders for diagnosis and patient management are discussed.

The role of genetics in specific language impairments and specific reading impairments is also considered. A separate chapter presents evidence for a genetic contribution to the pathogenesis of stuttering. The chapter on stuttering expands on earlier discussions of mutant gene identification to include approaches for identifying genes for "complex disorders" which are described as disorders that may have genetic and non-genetic causes, no clear inheritance pattern, and a variety of genetic precursors. The importance of educating the lay public about genetics and inherited disorders is discussed.

The book includes a chapter on human behavioral genetics and its application to developmental, communicative, and learning disorders. Basic concepts underlying the use of quantitative genetic theory to determine if and to what extent genes affect human behavior are introduced. Effects of genes and environment on disorders of reading, attention or activity, and autism are discussed.

A broad perspective on inherited communicative disorders is presented in this book, in part by the dovetailing of evidence from basic and applied research in the chapters outlined above. In addition, epidemiological data are provided for many of the included disorders. Ethical, legal, and social implications related to uncovering an individual's genetic make up are discussed. Finally, issues related to genetic counseling, advances in genetic treatment, and prevention of inherited disorders are presented.

CRITIQUE: For clinicians and clinical researchers in audiology, speech-language pathology and otolaryngology, this book is a practical yet comprehensive resource on the role of genetics in disorders of speech, language, and hearing. It is informative and provocative, and let's face it, genetics is taking on an ever-increasing role in medicine. This book covers a lot of territory in relation to that role for communicative disorders and provides pertinent citations and internet site addresses for further exploration of the topic. Most sections provide both basic and advanced information. However, individuals with little or no background in basic genetic concepts may want more detail in that area.